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22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening
BACKGROUND: Widespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of au...
Autores principales: | Wenger, Tara L., Miller, Judith S., DePolo, Lauren M., de Marchena, Ashley B., Clements, Caitlin C., Emanuel, Beverly S., Zackai, Elaine H., McDonald-McGinn, Donna M., Schultz, Robert T. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4859984/ https://www.ncbi.nlm.nih.gov/pubmed/27158440 http://dx.doi.org/10.1186/s13229-016-0090-z |
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